MYBPC3 was first reported in relation to autosomal dominant congenital heart disease in 2011 (Posch et al., PMID: 22194935). Nine variants (missense, nonsense, splice acceptor) that have been reported in 10 probands with CHD in eight publications (PMIDs: 22194935, 27418595, 28991257, 31440271, 33209723, 35146008, 34670123, 35885957) are included in this curation, but only three variants were scored, as the other variants were present in unaffected family members and/or too frequent in population databases. The mechanism of pathogenicity appears to be loss-of-function. This gene-disease relationship is also supported by experimental evidence (expression data; PMID: 28315668). In summary, there is limited evidence to support this gene-disease relationship. Although more evidence is needed to support a causal role, no convincing evidence has emerged that contradicts the gene-disease relationship. This classification was approved by the Congenital Heart Disease GCEP on July 8th, 2024 (SOP Version 10)
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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